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Human disorder involving chromosomal abnormalities

Write an essay demonstrating critical analysis on ONE human disorder involving chromosomal abnormalities, including a discussion of the ethics involved in diagnosing the disorders.

Be sure to structure your work appropriately and include: the underlying genetics of your chosen disorder; the molecular and functional consequences of the aberration; the clinical presentation; and the diagnosis and management of the condition. Include as much scientific and molecular detail as possible. Your reference material at this level should include up-to-date journals. The main content of the essay should be around 1300 words, and then around 200 words on the ethical issues.

Create all figures that you include yourself. Hand-drawn figures and figures created using a computer program are equally acceptable. If you figure is adapted from an existing source, be sure to reference the source appropriately. Minimum and maximum numbers of figures are not given; use your judgement to create a suitable balance between text and figures.

Word limit: 1500 words. This word limit does not include references, titles, figure legends, tables or figures.


Essay guidelines:

  • Your essay must be written in your own words and style, and should be no more than 1500 words in length. Essays that are significantly over length will be penalised.
  • Your essay must have an original title that encapsulates the ideas that you are presenting.
  • Your subject-matter must be at the cutting edge of medical genetics, and thus should include at least ten references from peer reviewed journal papers including four from the last four years.
  • You are strongly advised to make sensible use of figures and tables. These should reflect your own specific requirements and, if they are adapted from published figures or tables, you must acknowledge your sources. Tables and figure legends do not contribute to the overall word-count.
  • The type of reader you should have in mind is someone already having a good general knowledge of the subject area. Such a person will be hoping for an interesting, and original, presentation of mostly familiar material. Anything extra will be a bonus. Try to avoid including anything very basic.
  • You should make a search of the scientific literature for suitable material and use a wide range of appropriate sources; use Medline/Pubmed – you will find them invaluable. Your essay should be fully referenced in Harvard style.

Marking scheme, criteria or rubric

Your essay will be assessed on the basis of its content, style, effectiveness of presentation and originality. Mark allocations are as follows:


Introduction (10 marks):  A brief overview setting the direction and agenda for essay.

Body of essay (40 marks): Detailed analysis; material presented at an appropriate level for the target audience; current and accurate content; volume and depth of content; each point well supported with examples and argument; an original and interesting argument/idea; reflection on the ethics involved.

Conclusion (10 marks): Concise summary; placing the information and ideas of the essay in a wider context. Credit will be lost if new facts are provided.

Essay structure (10 marks): Easy to read; logical flow and order with appropriate headings or subheadings as needed; tables and figures numbered with appropriate headings or subheadings as needed; appropriate legends used for clarity.

Student-created figures (10 marks): Clear and relevant figures that complement the body of text and add appropriate detail; evidence of original thought in creation and presentation of figures. Figures may be created using digital tools or in hard copy.

Written expression (10 marks): Appropriate paragraph and sentence structure, including accurate spelling, grammar and punctuation.

References  (10 marks): Multiple, current primary research papers used, as well as other appropriate sources; good breadth and depth of knowledge base used for the essay; correct (Harvard style) formatting (in-text and in reference list); appropriate referencing for figures and tables.